Canonical Allele Identifier: PA645405142
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418196
ClinVar RCV Id: RCV000485285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1418Cys
CA16619956
NM_000138.5:c.4252G>T